Diagnostic Dilemma of Vanishing Bone Disease - A Case Report and Review of Literature.

Rationale: Vanishing bone disease (VBD) is a rare bone disorder in which progressive osteolysis may lead to complete disappearance of involved bones. The diagnosis of this disease requires a high degree of clinical suspicion. We present a case of progressive osteolysis of mandible in a patient. Patient Concerns: The patient had been without definitive diagnosis and treatment for over a year. Diagnosis: Diagnosis was made by exclusion of genetic, traumatic, inflammatory, infective, endocrine and neoplastic aetiologies and by carefully correlating clinical, imaging and histopathological findings of the patient. Treatment: Segmental resection of the advancing edge of the lesion was carried out. Outcome: The patient is disease free, with no evidence of further osteolysis, after six months of follow-up. Take-Away Lessons: This article describes the exclusion-based approach adopted to diagnose a case of VBD, aiming to standardise a workup for the diagnosis.

Vanishing the Existence of the Mandible?

Phantom bone disease, also known as Gorham's disease, is a rare disorder characterized by the progressive destruction of one or more skeletal bones. Commonly involved bones are the upper and lower extremities. Very few cases have been reported in the maxillofacial region with unilateral mandible being commonly involved. This case, to our knowledge, is the third case of Gorham's disease involving the whole length of the mandible in a 55-year-old female with a brief discussion on its clinical, radiographic, and histopathological presentation and treatment options.

Non-secretory myeloma in young man mimicking the Gorham disease: case report and the literature review.

Multiple myeloma is a neoplasm of plasma cells affecting mostly the elderly with incidence peaks between 60 and 70 years. This disease is exceedingly rare in younger people, especially in adults under 30-year-old. Non-secretory multiple myeloma accounts for 1-5% of all cases of multiple myeloma. It is also a rare condition in young adult patients, and only six cases have been reported [1]. We herein describe a rare case of non-secretory myeloma in a 22-year-old male, explaining from chest wall pain, without general manifestation. Plain radiography and CT scans revealed diffuse osteolytic lesion mimicking the Gorham disease. A bone marrow biopsy was conducted, revealing the diagnosis of myeloma.

Gorham-Stout Disease with Clinical Response to Sirolimus Treatment.

Gorham-Stout disease (GSD) is a rare clinical entity of unknown aetiology, with osseous resorption, vascular structure proliferation and inflammation of adjacent soft tissues. The clinical spectrum varies from asymptomatic patients to patients with pain, functional limitation or deformity. GSD may affect 1 or multiple bones in any location; however, predilection for the maxillofacial area and upper limbs has been described. We present the case report of a 33-year-old male patient with facial pain and loss of dental pieces; imaging showed extensive lytic involvement of the mandible and cranial bones. After exclusion of malignant, metabolic, infectious, or autoimmune disease, a diagnosis of GSD was made. Treatment with sirolimus was prescribed, achieving a symptomatic improvement and stability of imaging findings. The importance of the knowledge of this orphan disease is highlighted, to achieve a prompt diagnosis and medical treatment. LEARNING POINTS: Gorham-Stout syndrome constitutes an orphan disease with an unknown aetiology, it must be considered in young patients with osteolysis of unknown cause.The diagnosis of Gorham-Stout syndrome is an exclusion one.Drugs with antiproliferative and antiangiogenic activity such as mTOR inhibitors are an attractive option for the management of this disease.

Young adult with Gorham's disease presenting in an emergency department: a case report.

INTRODUCTION: Gorham's disease is a very rare musculoskeletal disorder characterized by progressive resorption of one or more skeletal bones. Most of the 200 cases reported earlier are diagnosed before the age of 40 years. Due to rarity, the diagnosis of Gorham's disease in the Emergency Department may be very difficult. CASE PRESENTATION: We report a case of Gorham's disease. A 23-year old Caucasian man presented to the Emergency Department with a significant loss of power and sensation of the lower limbs and lower torso. Clinical examination, computed tomography, and magnetic resonance imaging revealed resorption of the ribs and vertebrae, severe kyphosis, and spinal stenosis in the thoracic area. The patient underwent several surgical procedures, including spondylodesis and decompression, and made a good initial recovery. Biopsy confirmed the diagnosis of Gorham's disease. CONCLUSION: We present a young man with Gorham's disease visiting the Emergency Department. After the proper diagnosis and treatment, our patient had good outcome, although the etiology of this rare disease is uncertain.

Vanishing bone disease: An enigma.

Vanishing bone disease is a rare clinical entity with unknown etiology. This disease affects individual irrespective of age or sex. Various names have been used in the literature to describe this condition such as Gorham's disease, phantom bone disease, massive osteolysis, disappearing bone disease and acute spontaneous absorption of bone. The pathogenesis is unknown and the treatment still remains controversial. Considering the rarity of the disease, we report here an interesting and unique case of massive osteolysis of the lower jaw that affected the mandibular basal and alveolar bone. The diagnoses lead on the association of clinical, radiological and histological features.

Gorham Disease Limited to the Left Upper Extremity Without Hand Involvement.

In this case report, we present a young female patient with a history of Gorham disease, who sustained pathologic fractures of the left radius and ulna after a low-impact fall. Massive osteolysis of the left forearm and wrist was noted on plain radiographs. The patient had had 8 previous left upper-extremity fractures without evidence of disease in any other area of the body.

'Vanishing carpal bones' in a patient with congenital adrenal hyperplasia - A diagnostic dilemma.

The vanishing bone disease, also known as Gorhams disease usually involves long bones. Isolated carpal bone involvement is uncommon. A 14 year old male presented with pain in the right wrist joint since 4 months. He was a known case of Congenital Adrenal Hyperplasia on oral steroids for 3 years. X-rays showed deformed arthritic scaphoid, lunate and capitate. A proximal row carpectomy was performed to provide functional wrist mobility to the patient. Histopathological examination was consistent with Gorham's disease. In a patient with systemic disease receiving steroid therapy Gorhams disease poses a diagnostic challenge.

Floating teeth appearance: A radiographic dilemma.

Gorham disease (GD) is an extremely rare disorder that is characterised by massive osteolysis of the affected bone with unknown aetiology and an unpredictable prognosis. Additionally, no standard treatment is available for GD. This article describes a case report of a 61-year-old Malay woman who was diagnosed with GD of the anterior mandible without a prior history of trauma. She presented with pain and mobility of the dentoalveolar segment for 3 months. The radiographic findings showed "floating teeth" with widening of the periodontal ligament space and localized area of bony destruction. Histopathologically, there was proliferation of numerous dilated endothelial-lined channels within the intertrabecular tissue. Some areas of bone were replaced by fibrous connective tissue giving rise to the appearance of a benign fibroosseous lesion. The patient was managed with simple removal of the affected bone segment under local anaesthesia, followed by prosthodontic rehabilitation. Healing of the surgical site was uneventful, and no recurrence was reported at the 3-year follow-up.

Multiple photopenic vertebrae in the bone scintigraphy of a young man with Gorham disease: CT and MRI correlation.

We report a rare pattern of extensive bone abnormalities on the Tc-99m MDP bone scintigraphy in a patient with Gorham disease. This rare condition is the result of vascular and lymphatic channel proliferation in bony structures which induce bone resorption. Our case is a 28-year-old man with a history of biopsy-proven soft tissue hemangioma in the left thigh, encountered with a recent diagnosis of multiple vertebral hemangiomata in the axial skeleton and progressive bony destructions in the pelvis on CT and MRI images, referred for bone scintigraphy. Multiple photopenic hemangiomata were noted on bone scan.

Gorham's disease: treatment with an autologous iliac bone graft and a reverse total shoulder arthroplasty.

BACKGROUND: Gorham's disease (GSD) is a rare osteolytic disease with unclear etiology, and no known prevention or effective treatment. Here we report a new surgical treatment for a case of GSD in September 2017. CASE PRESENTATION: We report GSD in a 52-year-old woman. She had disappearance of her humeral head and a defect of the glenoid bone in her left shoulder joint, which were serious obstacles to joint function. We used an autologous iliac bone graft to repair the glenoid bone defect and a reverse total shoulder arthroplasty. After surgery, humeral osteolysis did not continue, and her shoulder function recovered well. CONCLUSIONS: This case suggests that autologous bone grafting can still be used to treat GSD despite it being an osteolytic disease. The successful treatment suggests that this method could be used for GSD in other bones.

Gorham's disease of the mandible: radiological features.

The most conspicuous element of Gorham's disease is its radiographic features, wherein massive disappearance of the mandible is observed. We report a case of an adolescent boy with massive osteolysis of the mandible in whom the diagnosis of Gorham's disease was made. A 14-year-old boy was referred to the Department of Oral and Maxillofacial Surgery, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, for the management of a massive mandibular deformity. He was diagnosed with a hemangioma-like lesion at 1 year of age. The disease had progressed for an unknown number of years. Plain X-rays and computed tomography images were examined for reconstructive surgery planning. Gorham's disease is self-limiting, but has catastrophic results. The role of imaging is huge, particularly for reconstructive surgery planning.

Gorham disease involving the maxillofacial bones: A perplexing entity.

Gorham disease is a rare disorder with progressive osteolysis which leads to the vanishing of bones. Its etiology and ideal management strategy are still an enigma. A case of Gorham disease involving the maxillofacial region in a 25-year-old male with an emphasis on etiology and diagnosis is discussed.

Vanishing Mandible in a 7-year Old Child: Response to Radiation Therapy.

Massive osteolysis in a 7-year old child is a rare condition. The etiology of massive osteolysis is unknown and it results in the progressive destruction of bony structures. There is no standard therapy available in the literature. Conservative treatment is often used for its management. Radiotherapy is considered as an accepted form of treatment with greater chance of success when it is used in the early course of disease. There are few case reports in the literature in which radiotherapy has been used for the treatment. This article highlights the literature update on various treatment modalities and a case managed by radiation therapy.

[Management of postoperative complications in cases of Gorham's disease with cervical spine involvement: A case report]. / Gestion des complications postopératoires dans le cas de la maladie de Gorham de localisation cervicale : cas clinique.

Gorham's disease is a rare osteolytic bone disease, caused by pathological vascular tissue, which may spread to adjacent organs. It is a disease of unknown etiology, primarily involving the axial skeleton and whose treatment is not codified. Cervical spine involvement is unusual. Stabilization of the cervical spine is a real surgical challenge. We report the case of a young adult treated in our neurosurgery department for a cervical spine localization of Gorham's disease.

Gorham's disease in humerus treated with autogenous vascularized fibular graft.

Gorham's disease is a rare disorder of the bone characterized by progressive massive osteolysis. The pathophysiology is unknown, and diagnosis is often difficult. Most cases are often recognized retrospectively. There is no standardized treatment and management for Gorham's disease. We report a case of an 18-year-old male presenting with a pathologic fracture in the humerus shaft diagnosed with Gorham's disease. Patient was treated with autogenous vascularized fibular graft with wide excision and a 10 years followup after first surgery.

Vanishing bone disease of chest wall and spine with kyphoscoliosis and neurological deficit: A case report and review of literature.

Vanishing bone disease is an extremely rare disorder of unknown etiology characterized by idiopathic osteolysis of bone. We describe a case of vanishing bone disease of chest wall and spine with kyphoscoliosis and neurological deficit. A 17-year-old male presented with gradually progressive deformity of back and dorsal compressive myelopathy with nonambulatory power in lower limbs. Radiographs revealed absent 4th-7th ribs on the right side with dorsal kyphoscoliosis and severe canal narrowing at the apex. The patient was given localized radiotherapy and started on a monthly infusion of 4 mg zoledronic acid. Posterior instrumented fusion with anterior reconstruction via posterolateral approach was performed. The patient had a complete neurological recovery at 5 weeks following surgery. At 1 year, anterior nonunion was noted for which transthoracic tricortical bone grafting was done. Bone graft from the patient's mother was used both times. At 7 months following anterior grafting, the alignment was maintained and the patient was asymptomatic; however, fusion at graft-host interface was not achieved. Bisphosphonates and radiotherapy were successful in halting the progress of osteolysis.

Gorham's Disease of the Maxilla and Mandible With Distinctive Cone Beam Computerized Tomographic Features.

Gorham's disease is a rare and atypical disorder epitomized by progressive osteolysis of bone with eventual total disappearance of bone. The etiology is poorly understood with variable clinical presentation. Most times it is initially misdiagnosed as temporomandibular joint dysfunction, periodontal disease or odontogenic tumors clinically and radiographically in routine dental practice. Radiographic examination, such as Cone Beam Computerized Tomography (CBCT) play a vital role in diagnosing such disorder resulting in disappearance of the involved bone entirely, which is a definitive distinguishing feature of this condition. Regarding the rarity of the condition, the current study presents a case of Gorham's disease with distinctive clinical, radiological, and histological, features involving maxilla and mandible.

Gorham disease: lymphangiomatosis with massive osteolysis.

Gorham disease (also referred to as vanishing bone disease or idiopathic massive osteolysis) is a rare skeletal condition that results in the localized replacement of bone with angiomas and fibrosis. The etiology and most effective treatment for this nonhereditary condition remain controversial in the medical literature. To our knowledge, we present the first case of post-traumatic Gorham disease that includes MR imaging (before and after radiation therapy), post-radiation CT with evidence of treatment effect (sclerosis), as well as asymptomatic bilateral renal lymphangiomata.

Gorham's Disease in a Patient with Traumatic Spinal Cord Injury: Case Report and Review of the Literature.

Gorham's disease is a rare entity that has been sparsely covered in the medical literature, and its pathophysiology remains poorly understood. We present the case of a 22-year-old man who sustained a traumatic T6 American Spinal Injury Association Impairment Scale B paraplegic injury complicated by a complaint of shoulder pain during his acute rehabilitation stay. He was found to have osteolysis of the distal right clavicle (Gorham's disease). He was treated conservatively with nonsteroidal anti-inflammatory drugs and relative rest and experienced good functional outcome. Although the differential diagnosis for shoulder pain in the paraplegic patient during acute rehabilitation is extensive, it is important to consider less common but still important etiologies such as Gorham's disease.